Submissions for variant NM_000075.4(CDK4):c.522+8G>A

gnomAD frequency: 0.00003  dbSNP: rs758294834

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001081840	SCV000252619	benign	Familial melanoma	2025-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000439686	SCV000512541	benign	not specified	2015-04-24	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics, part of Exact Sciences	RCV000439686	SCV000805808	benign	not specified	2017-06-27	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV003477649	SCV000889267	benign	not provided	2022-10-19	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000664264	SCV002534255	benign	Hereditary cancer-predisposing syndrome	2021-07-16	criteria provided, single submitter	curation
Myriad Genetics, Inc.	RCV004786527	SCV005404542	likely benign	Melanoma, cutaneous malignant, susceptibility to, 3	2024-09-25	criteria provided, single submitter	clinical testing	This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.
True Health Diagnostics	RCV000664264	SCV000787988	likely benign	Hereditary cancer-predisposing syndrome	2018-02-28	no assertion criteria provided	clinical testing